Search Result "organic acidurias"
123I-FP-CIT Brain SPECT Findings in Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency
Journal: Current Radiopharmaceuticals
Volume: 14 Issue: 1 Year: 2021 Page: 78-83
Author(s): Viviana Frantellizzi,Mariano Pontico,Arianna Pani,Maria Silvia De Feo,Giuseppe De Vincentis
Diffusion Tensor Imaging Parameters in Children with Acute Hyperammonemic Encephalopathy due to Urea Cycle Enzyme Defects and Organic Acidemia
Journal: Current Medical Imaging
Volume: 14 Issue: 5 Year: 2018 Page: 837-844
Author(s): Serpil Kurtcan,Alpay Alkan,Huseyin Toprak,Demet Demirkol,Umit Tuzun,Ayse Aralasmak
Autism Spectrum Disorders: The Association with Inherited Metabolic Disorders and Some Trace Elements. A Retrospective Study
Journal: CNS & Neurological Disorders - Drug Targets
Volume: 18 Issue: 5 Year: 2019 Page: 413-420
Author(s): Wafaa Moustafa M. Abo El Fotoh,Sameh Abdallah Abd El Naby,Nahla M. Said Abd El Hady
Nuclear Magnetic Resonance Spectroscopy and Genetic Disorders
Journal: Current Medicinal Chemistry
Volume: 15 Issue: 1 Year: 2008 Page: 15-36
Author(s): R. A. Iles
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency
Journal: Current Molecular Medicine
Volume: 19 Issue: 7 Year: 2019 Page: 487-493
Author(s): Bárbara J. Henriques,Tânia G. Lucas,Esmeralda Martins,Ana Gaspar,Anabela Bandeira,Célia Nogueira,Otilia Brandão,Hugo Rocha,Laura Vilarinho,Cláudio M. Gomes
Carnitine Metabolism and Deficit - When Supplementation is Necessary?
Journal: Current Pharmaceutical Biotechnology
Volume: 4 Issue: 3 Year: 2003 Page: 211-219
Author(s): A. Evangeliou, D. Vlassopoulos
Current Scenario of Clinical Diagnosis to Identify Inborn Errors of Metabolism with Precision Profiling for Expanded Screening in Infancy in a Resource-limited Setting
Journal: Current Pediatric Reviews
Volume: 19 Issue: 1 Year: 2023 Page: 34-47
Author(s): Suman Kumar Ray
Combined Oxidative Phosphorylation Deficiency Type-13 with Perinatal Presentation: A Case Report
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 8-8
Author(s):
Follow-up of Patients with Hereditary Metabolic Diseases during the 3 Years of the Pandemic in the Reference Center for Hereditary MetabolismDiseases of the Centro Hospitalar Universitário Lisboa Norte
Journal: Endocrine, Metabolic & Immune Disorders - Drug Targets
Volume: 24 Issue: 16 Year: 2024 Page: 14-14
Author(s):
Heterodimeric Amino Acid Transporters: Molecular Biology and Pathological and Pharmacological Relevance
Journal: Current Drug Metabolism
Volume: 2 Issue: 4 Year: 2001 Page: 339-354
Author(s): Yoshikatsu Kanai, Hitoshi Endou